Is your child's muscles gradually weakening? Let's learn about Duchenne Muscular Dystrophy!

Did your little one start walking later than other children? Or does he fall all the time? Have you noticed that he has difficulty getting up from a sitting position or climbing stairs? These are things that we sometimes don't pay much attention to as parents. But sometimes these can be the first signs of a condition like Duchenne Muscular Dystrophy. So let's talk about this today. Don't be afraid, the most important thing is to be aware of this.

What is Duchenne Muscular Dystrophy (DMD)?

Simply put, 'muscular dystrophy' is a group of diseases that weaken muscles over time and reduce their flexibility. The most common type of this is Duchenne muscular dystrophy, which we call DMD for short.

This is because of a defect in a gene that helps keep our muscles healthy. Think of our muscles as a brick wall. The mortar that holds these bricks together is a protein called dystrophin . In children with DMD, the body does not produce this dystrophin protein, or it produces very little of it. Then, like a wall without mortar, the muscles are easily damaged and gradually weaken.

This condition is most common in boys . Symptoms usually appear in early childhood. At first, it can be difficult to stand, walk, and climb stairs. Over time, some children may need to use a wheelchair. The heart and lungs may also be affected.

What are the symptoms? How do you recognize it?

If your child has DMD, you will usually notice the first signs before the age of 6. The muscles in the legs are affected first. This is why these children start walking later than other children. After they start walking, they fall frequently, have difficulty getting up from the floor, and have difficulty climbing stairs. After a while, they may start waddling or walking on the tips of their toes.

As the child gets older, more symptoms may appear.

But remember, DMD is not usually a painful condition, and it does not affect a child's intelligence.

How to accurately diagnose the disease?

If you notice these symptoms in your child, the best thing to do is to see your family doctor as soon as possible. He or she will ask you about your child's symptoms. He or she will then examine the child and, if necessary, refer you for some tests.

Tests to be performed if the doctor has any doubts

• Blood tests: This mainly looks at an enzyme called Creatine Kinase (CK) . This CK enzyme is released into the blood when muscles are damaged. So if the CK level is very high, it is a big clue that you have DMD.
• Gene tests: This test, which can be done with a blood sample, can accurately determine whether there is a defect in the dystrophin gene that causes DMD. This test can be done to see if female relatives also have this gene (are carriers of the disease).
• Muscle biopsy: A very small piece of the child's muscle is taken with a very small needle and examined under a microscope. This can confirm whether the dystrophin protein is low. However, with the advancement of genetic testing, this test is often not needed.

What are the treatments?

There is no cure for DMD yet. However, there are many effective treatments to control symptoms and protect the muscles, heart, and lungs.

• Corticosteroids: Drugs like Prednisone and Deflazacort can help control muscle damage to a great extent. Children who take these drugs can walk for 2-5 years longer than those who don't. They also help the heart and lungs function better.
• Modern Medicines: Today, several targeted treatments have been introduced depending on the nature of the genetic defect that causes DMD. Some of the drugs include Eteplirsen, Golodirsen, and Casimersen. These help to restore the missing dystrophin protein to a certain level.
• Gene therapy: (Delandistrogene moxeparvovec - Elevidys) is the first gene therapy approved for this purpose. It involves giving the body another protein that partially replaces the function of the dystrophin protein. These are still very new and expensive treatments.
• Cardiologist Advice: DMD children can develop heart problems, so regular check-ups with a cardiologist are essential. Some blood pressure medications can help protect the heart muscle.
• Physiotherapy: Exercise and stretches can help keep muscles and joints flexible. It is important to seek the advice of a physiotherapist for this.
• Surgery: In some cases, surgery may be necessary to correct tight muscles (contractures) and to correct curvature of the spine (scoliosis).

Things you can do as parents

It's normal to feel overwhelmed when you learn that your child has a condition like DMD. But remember, having this condition doesn't mean your child can't go to school, play with friends, or be happy. By following the right treatment plan, you can help your child live an active life.

• Help them stand and walk as much as possible: This helps keep their bones strong and their spine straight. If necessary, you can use devices like `braces` or `standing walkers`.
• Provide good nutrition: There is no specific diet for DMD. However, a healthy diet can help control weight and prevent things like constipation. Talk to a dietitian to develop a meal plan that suits your child.
• Keep active: Seek advice from a physical therapist and engage your child in safe exercises that don't strain the muscles.
• Be strong too: Talking to other families with children like this and sharing experiences will be a great source of strength for you. Join support groups for that. If necessary, don't hesitate to seek the help of a psychologist.

In conclusion, life with DMD is challenging. But with the right medical treatment, physical therapy, nutrition, and loving care, these children can live successful, happy lives like everyone else in today's society. We all have hope that with the advancement of science, even better treatments will emerge in the future.

Duchenne Muscular Dystrophy, DMD, muscular dystrophy, children's diseases, genetic diseases, dystrophin, pediatrics, physical therapy